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Genetic thrombophilic mutations among couples with recurrent miscarriage
1Department of Obstetrics & Gynaecology, Division of Surgery, Oncology, Reproductive Biology and Anaesthetics, Imperial College London, Mint Wing, St Mary's Hospital, London, UK.
Human Reproduction (Oxford, England)
|January 25, 2006
Summary
Recurrent miscarriage (RM) can have a thrombotic cause. Couples with RM carrying multiple thrombophilic mutations face a higher risk of future pregnancy loss, even without treatment.
Area of Science:
- Reproductive Medicine
- Genetics
- Thrombophilia
Background:
- Recurrent miscarriage (RM) affects couples experiencing three or more consecutive pregnancy losses before 12 weeks' gestation.
- A subset of RM cases is linked to thrombotic (blood clotting) factors.
Purpose of the Study:
- To investigate the prevalence of specific thrombophilic mutations in couples with RM.
- To assess the impact of these mutations on future pregnancy outcomes in untreated RM couples.
Main Methods:
- Genotyping for factor V Leiden (FVL), prothrombin G20210A (PTG), and MTHFR C677T mutations in 357 RM couples and 68 control couples.
- Prospective follow-up of untreated pregnancies in RM couples with identified thrombophilic mutations.
Main Results:
- Allele frequencies for FVL, PTG, and MTHFR C677T were comparable between RM couples and controls.
- Couples with RM where either partner carried multiple thrombophilic mutations had a 1.9-fold increased risk of miscarriage in subsequent untreated pregnancies.
Conclusions:
- The general prevalence of individual thrombophilic mutations does not differ between RM couples and controls.
- Multiple thrombophilic mutations in either partner significantly elevate the risk of miscarriage in subsequent pregnancies among couples with a history of RM.